Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Su BN et al.
Frontiers in Aging Neuroscience, 2022
36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ et al.
The British Journal of Ophthalmology, 2021
32188678 (PubMed )
Supplement: bjophthalmol-2020-315878supp001.pdf
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities.
Guo Y et al.
Frontiers in Cellular Neuroscience, 2019
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS2.xlsx › Sheet1
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.
Wang P et al.
Oncotarget, 2017
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
Xu W et al.
Molecular Vision, 2011
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
Liu X et al.
Molecular Vision, 2010
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
Dai H et al.
Molecular Vision, 2008
[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
Cui Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003
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